Investigation of primary cilia in the pathogenesis of biliary atresia.
Investigation of primary cilia in the pathogenesis of biliary atresia.
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DOI：
10.1097/mpg.0b013e318200eb6f
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发表时间：
2011-04
影响因子：
2.9
通讯作者：
Harris PC
中科院分区：
文献类型：
--
作者：
Hartley JL;O'Callaghan C;Rossetti S;Consugar M;Ward CJ;Kelly DA;Harris PC
原发性纤毛缺失是常染色体隐性遗传性多囊肾病等综合征的原因，其中肾囊肿的形成与肝脏疾病有关（2）。纤毛病的肝脏疾病是一种导管板畸形，导致先天性肝纤维化或肝囊肿的发展（3）。在10%至20%的BA（综合征BA）病例中，与其他特定发育缺陷相关，包括偏侧异常（内脏逆位）。偏侧性是由初级纤毛决定的，影响偏侧性的基因与胚胎中央节内纤毛微管的组织有关（4）。在本研究中，我们调查了患有BA的儿童，他们发生了肾囊肿，以增加我们对病理过程的理解。我们评估了肝移植对囊肿形成的影响，使用纤维囊蛋白作为纤毛标记物评估初级纤毛的作用，并在该组中寻找PKHD 1突变，最后确定其能动呼吸纤毛的功能。
Abnormalities of primary cilia are the cause of syndromes such as autosomal recessive polycystic kidney disease, in which renal cyst formation is associated with liver disease (2). The liver disease in ciliopathies is a ductal plate malformation leading either to congenital hepatic fibrosis or hepatic cyst development (3). In 10% to 20% of cases with BA (syndromic BA), there is an association with other specific developmental defects, including a laterality abnormality (situs inversus). Laterality is determined by primary cilia, and genes affecting laterality are involved in the organisation of cilial microtubules within the embryonal central node (4).In the present study we investigated children with BA who developed renal cysts to increase our understanding of the pathological process. We evaluated the effect of liver transplantation on cyst formation, assessed the role of primary cilia using fibrocystin as a cilial marker and looked for PKHD1 mutations in this group, and finally determined the function of their motile respiratory cilia.